{"created":"2023-05-15T09:02:44.200746+00:00","id":3601,"links":{},"metadata":{"_buckets":{"deposit":"d7786bfd-2985-4b9c-befd-484478575ddc"},"_deposit":{"created_by":3,"id":"3601","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"3601"},"status":"published"},"_oai":{"id":"oai:hirosaki.repo.nii.ac.jp:00003601","sets":["557:561:641"]},"author_link":["11526","11516","11541","11535","11519","11514","11163","11166","11523","11517","11158","11531","11150","11530","11155","11524","11532","11147"],"item_5_alternative_title_21":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Hallopeau-Siemens型劣性栄養障害型表皮水疱症における新規COL7A1ミスセンス変異"}]},"item_5_alternative_title_22":{"attribute_name":"タイトル（ヨミ）","attribute_value_mlt":[{"subitem_alternative_title":"Hallopeau-Siemensガタ レッセイ エイヨウ ショウガイガタ ヒョウヒ スイホウショウ ニ オケル シンキ COL7A1 ミスセンス ヘンイ"}]},"item_5_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2007-11-15","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"22","bibliographicPageStart":"15","bibliographicVolumeNumber":"59","bibliographic_titles":[{"bibliographic_title":"弘前医学"}]}]},"item_5_description_17":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_5_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A] gene encoding type\nVII collagen. DEB is clinically characterized by mucocutaneous blistering in response to minor trauma. followed\nby scarring and nail dystrophy. DEB is inherited in either an autosomal dominant (DDEB) or recessive (RDEB)\nfashion. DDEB basically results from a glycine substitution mutation within the collagenous domain on one COL7A1\nallele. while a combination of mutations such as premature termination codon. missense. splice-site mutations on both\nalleles causes RDEB. In this study, we examined a Japanese EB boy with generalized blistering and scar formation.\nand made a diagnosis of the Hallopeau-Siemens type RDEB (HS-RDEB). the most severe form of RDEB. Mutational\nanalysis of the COL7A1 gene revealed a novel missense mutation A80P and a novel nonsense mutation Q1211X. In\ngeneral, HS-RDEB is caused by combination of premature termination codon mutations. but 3 HS-RDEB cases have\nbeen reported to have combination of premature termination codon and missense mutations one of which was S48P.\nThis study suggests that even missense mutation, which leads to substitution for proline in amino terminal end of\ntype VII collagen. can cause HS-RDEB.","subitem_description_type":"Abstract"}]},"item_5_description_7":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"弘前医学. 59, 2007, p.15-22","subitem_description_type":"Other"}]},"item_5_full_name_2":{"attribute_name":"著者(ヨミ)","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11535","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ムライ, タカヤ"}]},{"nameIdentifiers":[{"nameIdentifier":"11519","nameIdentifierScheme":"WEKO"}],"names":[{"name":"タマイ, カツト"}]},{"nameIdentifiers":[{"nameIdentifier":"11163","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ナカノ, ハジメ"}]},{"nameIdentifiers":[{"nameIdentifier":"11166","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ハナダ, カツミ"}]},{"nameIdentifiers":[{"nameIdentifier":"11523","nameIdentifierScheme":"WEKO"}],"names":[{"name":"ハシモト, イサオ"}]},{"nameIdentifiers":[{"nameIdentifier":"11524","nameIdentifierScheme":"WEKO"}],"names":[{"name":"サワムラ, ダイスケ"}]}]},"item_5_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"11541","nameIdentifierScheme":"WEKO"}],"names":[{"name":"村井, 孝弥"}]},{"nameIdentifiers":[{"nameIdentifier":"11526","nameIdentifierScheme":"WEKO"}],"names":[{"name":"玉井, 克人"}]},{"nameIdentifiers":[{"nameIdentifier":"11155","nameIdentifierScheme":"WEKO"}],"names":[{"name":"中野, 創"}]},{"nameIdentifiers":[{"nameIdentifier":"11158","nameIdentifierScheme":"WEKO"}],"names":[{"name":"花田, 勝美"}]},{"nameIdentifiers":[{"nameIdentifier":"11530","nameIdentifierScheme":"WEKO"}],"names":[{"name":"橋本, 功"}]},{"nameIdentifiers":[{"nameIdentifier":"11531","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"268","nameIdentifierScheme":"研究者総覧","nameIdentifierURI":"http://hue2.jm.hirosaki-u.ac.jp/html/268_ja.html"}],"names":[{"name":"澤村, 大輔"}]}]},"item_5_publisher_35":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"弘前大学大学院医学研究科・弘前医学会"}]},"item_5_radio_42":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"subitem_radio_item":"Article"}]},"item_5_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00211444","subitem_source_identifier_type":"NCID"}]},"item_5_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0439-1713","subitem_source_identifier_type":"ISSN"}]},"item_5_subject_19":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"494.8","subitem_subject_scheme":"NDC"}]},"item_5_subject_23":{"attribute_name":"NIIサブジェクト","attribute_value_mlt":[{"subitem_subject":"外科系臨床医学","subitem_subject_scheme":"Other"}]},"item_5_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"Department of Dermatology, Hirosaki University Graduate School of Medicine"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"},{"subitem_text_value":"弘前大学大学院医学研究科皮膚科学講座"}]},"item_5_version_type_18":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Murai, Takaya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tamai, Katsuto"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakano, Hajime"}],"nameIdentifiers":[{},{}]},{"creatorNames":[{"creatorName":"Hanada, Katsumi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hashimoto, Isao"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sawamura, Daisuke"}],"nameIdentifiers":[{},{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-03-13"}],"displaytype":"detail","filename":"AN00211444_59_15.pdf","filesize":[{"value":"2.0 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AN00211444_59_15.pdf","url":"https://hirosaki.repo.nii.ac.jp/record/3601/files/AN00211444_59_15.pdf"},"version_id":"da873141-415f-46fe-bfe4-3beb13455aef"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"dystophic epidermolysis bullosa","subitem_subject_scheme":"Other"},{"subitem_subject":"Hallopeau-Siemens type","subitem_subject_scheme":"Other"},{"subitem_subject":"type VII collagen","subitem_subject_scheme":"Other"},{"subitem_subject":"missense mutations","subitem_subject_scheme":"Other"},{"subitem_subject":"栄養障害型表皮水疱症","subitem_subject_scheme":"Other"},{"subitem_subject":"Hallopeau-Siemens型","subitem_subject_scheme":"Other"},{"subitem_subject":"ＶＩＩ型コラーゲン","subitem_subject_scheme":"Other"},{"subitem_subject":"ミスセンス変異","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis"}]},"item_type_id":"5","owner":"3","path":["641"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-07-27"},"publish_date":"2008-07-27","publish_status":"0","recid":"3601","relation_version_is_last":true,"title":["Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-05-15T10:17:02.540050+00:00"}